Full data view for gene EDEM3

Information The variants shown are described using the NM_025191.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.4A>T r.(?) p.(Ser2Cys) Unknown - VUS g.184723777T>A g.184754643T>A EDEM3(NM_001319960.1):c.4A>T (p.S2C) - EDEM3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182A>G r.(?) p.(Asp61Gly) Unknown - VUS g.184718703T>C g.184749569T>C EDEM3(NM_001319960.1):c.182A>G (p.D61G), EDEM3(NM_025191.4):c.182A>G (p.(Asp61Gly)) - EDEM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.182A>G r.(?) p.(Asp61Gly) Parent #2 - likely pathogenic g.184718703T>C g.184749569T>C - - EDEM3_000003 - PubMed: Polla 2021, Journal: Polla 2021 - rs777353823 Germline - - - - - DNA SEQ-NG - WES CDG Fam7PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier mother M no Indonesia - - - - - 1 LOVD
+/. - c.182A>G r.(?) p.(Asp61Gly) Unknown - pathogenic g.184718703T>C - EDEM3(NM_001319960.1):c.182A>G (p.D61G), EDEM3(NM_025191.4):c.182A>G (p.(Asp61Gly)) - EDEM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814G>C r.(?) p.(Val272Leu) Unknown - likely benign g.184692924C>G - EDEM3(NM_025191.3):c.814G>C (p.(Val272Leu)) - EDEM3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.853+1G>T r.spl p.? Parent #2 - likely pathogenic g.184692884C>A g.184723750C>A - - EDEM3_000011 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam5PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier parents F - United States - - - - - 1 LOVD
+?/. - c.940A>T r.(?) p.(Arg314Ter) Both (homozygous) - likely pathogenic g.184690434T>A g.184721300T>A - - EDEM3_000010 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam4PatII4 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier parents M - United States - - - - - 1 LOVD
?/. - c.994C>G r.(?) p.(Leu332Val) Unknown - VUS g.184688660G>C - EDEM3(NM_025191.4):c.994C>G (p.(Leu332Val)) - EDEM3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1034G>A r.(?) p.(Arg345Gln) Unknown - VUS g.184688620C>T - EDEM3(NM_025191.4):c.1034G>A (p.(Arg345Gln)) - EDEM3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1133T>G r.(?) p.(Val378Gly) Unknown - VUS g.184688324A>C - EDEM3(NM_025191.3):c.1133T>G (p.(Val378Gly)) - EDEM3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1146_1147del r.(?) p.(His382Glnfs*33) Unknown - VUS g.184688313_184688314del - EDEM3(NM_001319960.1):c.1146_1147del (p.(His382GlnfsTer33)) - EDEM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1366G>A r.(?) p.(Asp456Asn) Unknown - VUS g.184686026C>T g.184716892C>T EDEM3(NM_001319960.1):c.1366G>A (p.D456N) - EDEM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1366G>A r.(?) p.(Asp456Asn) Parent #1 - likely pathogenic g.184686026C>T g.184716892C>T - - EDEM3_000002 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline - - - - - DNA SEQ-NG - WES CDG Fam7PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier mother M no Indonesia - - - - - 1 LOVD
+?/. - c.1369del r.(?) p.(Arg457GlufsTer28) Parent #2 - likely pathogenic g.184686023del g.184716889del c.1369delA - EDEM3_000009 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam3PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents M - United States - - - - - 3 LOVD
+?/. - c.1369del r.(?) p.(Arg457GlufsTer28) Parent #2 - likely pathogenic g.184686023del g.184716889del c.1369delA - EDEM3_000009 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam3PatII2 PubMed: Polla 2021, Journal: Polla 2021 sister F - United States - - - - - 1 LOVD
+?/. - c.1369del r.(?) p.(Arg457GlufsTer28) Parent #2 - likely pathogenic g.184686023del g.184716889del c.1369delA - EDEM3_000009 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam3PatII3 PubMed: Polla 2021, Journal: Polla 2021 sister F - United States - - - - - 1 LOVD
+?/. - c.1382_1385del r.(?) p.(Phe461SerfsTer23) Both (homozygous) - likely pathogenic g.184681723_184681726del g.184712589_184712592del - - EDEM3_000008 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline - - - - - DNA SEQ-NG - WES CDG Fam6PatIV5 PubMed: Polla 2021, Journal: Polla 2021 4-generation family, 1 affected sibs, unaffected heterozygous carrier parents/relatives F yes Afghanistan - - - - - 1 LOVD
+?/. - c.1407T>A r.(?) p.(Tyr469Ter) Parent #1 - likely pathogenic g.184681696A>T g.184712562A>T - - EDEM3_000007 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam5PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 1 affected sibs, unaffected heterozygous carrier parents F - United States - - - - - 1 LOVD
?/. - c.1657G>A r.(?) p.(Val553Met) Unknown - VUS g.184680891C>T - EDEM3(NM_025191.3):c.1657G>A (p.(Val553Met)) - EDEM3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1859del r.(?) p.(Ile620ThrfsTer7) Both (homozygous) - likely pathogenic g.184677465del g.184708331del - - EDEM3_000006 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam1PatIV1 PubMed: Polla 2021, Journal: Polla 2021 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes - Romani - - - - 3 LOVD
+?/. - c.1859del r.(?) p.(Ile620ThrfsTer7) Both (homozygous) - likely pathogenic g.184677465del g.184708331del - - EDEM3_000006 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam1PatIV2 PubMed: Polla 2021, Journal: Polla 2021 sister F yes - Romani - - - - 1 LOVD
+?/. - c.1859del r.(?) p.(Ile620ThrfsTer7) Both (homozygous) - likely pathogenic g.184677465del g.184708331del - - EDEM3_000006 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam1PatIV4 PubMed: Polla 2021, Journal: Polla 2021 sister F yes - Romani - - - - 1 LOVD
+?/. - c.1859del r.(?) p.(Ile620ThrfsTer7) Both (homozygous) - likely pathogenic g.184677465del g.184708331del - - EDEM3_000006 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam2PatIV1 PubMed: Polla 2021, Journal: Polla 2021 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F yes - Romani - - - - 2 LOVD
+?/. - c.1859del r.(?) p.(Ile620ThrfsTer7) Both (homozygous) - likely pathogenic g.184677465del g.184708331del - - EDEM3_000006 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam2PatIV3 PubMed: Polla 2021, Journal: Polla 2021 brother M yes - Romani - - - - 1 LOVD
-/. - c.1860C>T r.(?) p.(Ile620=) Unknown - benign g.184677464G>A - EDEM3(NM_001319960.2):c.1860C>T (p.I620=) - EDEM3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2001dup r.(?) p.(Ala668SerfsTer9) Parent #1 - likely pathogenic g.184677323dup g.184708189dup c.2001dupA - EDEM3_000005 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam3PatII1 PubMed: Polla 2021, Journal: Polla 2021 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents M - United States - - - - - 3 LOVD
+?/. - c.2001dup r.(?) p.(Ala668SerfsTer9) Parent #1 - likely pathogenic g.184677323dup g.184708189dup c.2001dupA - EDEM3_000005 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam3PatII2 PubMed: Polla 2021, Journal: Polla 2021 sister F - United States - - - - - 1 LOVD
+?/. - c.2001dup r.(?) p.(Ala668SerfsTer9) Parent #1 - likely pathogenic g.184677323dup g.184708189dup c.2001dupA - EDEM3_000005 - PubMed: Polla 2021, Journal: Polla 2021 - - Germline yes - - - - DNA SEQ-NG - WES CDG Fam3PatII3 PubMed: Polla 2021, Journal: Polla 2021 sister F - United States - - - - - 1 LOVD
?/. - c.2241G>T r.(?) p.(=) Unknown - VUS g.184672093C>A - EDEM3(NM_025191.4):c.2241G>T (p.(Leu747=)) - EDEM3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2554dup r.(?) p.(Met852Asnfs*11) Unknown - VUS g.184663442dup - EDEM3(NM_025191.3):c.2554dupA (p.(Met852fs)) - EDEM3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2591C>T r.(?) p.(Thr864Ile) Unknown - likely benign g.184663405G>A - EDEM3(NM_025191.3):c.2591C>T (p.(Thr864Ile)) - EDEM3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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